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Adamts13 Gene Detail
Summary
  • Symbol
    Adamts13
  • Name
    a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 13
  • Synonyms
    LOC279028, vWF-CP mRNA for von Willebrand factor-cleaving
  • Feature Type
    protein coding gene
  • IDs
    MGI:2685556
    NCBI Gene: 279028
  • Gene Overview
    MyGene.info: ADAMTS13
Location & Maps
more
  • Sequence Map
    Chr2:26973416-27009628 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      36213 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 19.14 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    ADAMTS13, ADAM metallopeptidase with thrombospondin type 1 motif 13
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ADAMTS13, ADAM metallopeptidase with thrombospondin type 1 motif 13
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ADAM-TS13, ADAMTS-13, C9orf8, vWF-CP, VWFCP
  • Links
    NCBI Gene ID: 11093
    neXtProt AC: NX_Q76LX8

  • Chr Location
    9q34; chr9:133414339-133459403 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Adamts13 mouse models; 1 with human ADAMTS13 associations

Human Disease Mouse Models
       Thrombotic Thrombocytopenic Purpura, Congenital; TTP   OMIM: 274150 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    14 phenotypes from 4 alleles in 6 genetic backgrounds
    6 phenotypes from multigenic genotypes
    32 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    11
  • Gene trapped
    2
  • Spontaneous
    1
  • Targeted
    8
  • Incidental Mutations
Homozygous mutation of this gene results in thrombocytopenia, decreased survival, and increased susceptibility to developing thrombotic thrombocytopenic purpura after shiga toxin injection. On a different background, mutants are viable and fertile.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000011842 VEGA Gene Model | MGI Sequence Detail 36213 C57BL/6J ±  kb
transcript OTTMUST00000027822 VEGA | MGI Sequence Detail 4506 Not Applicable  
polypeptide OTTMUSP00000012637 VEGA | MGI Sequence Detail 1426 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    323 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 5
    cDNA 2
    Primer pair 1
    Other 2

    Microarray probesets 1
References
more
  • Summaries
    All 56
    Developmental Gene Expression 1
    Diseases 2
    Gene Ontology 6
    Phenotypes 32
  • Earliest
    J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
  • Latest
    J:224408 Dubail J, et al., Insights on ADAMTS proteases and ADAMTS-like proteins from mammalian genetics. Matrix Biol. 2015 May-Jul;44-46:24-37

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory